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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Tessadori-van Haaften Neurodevelopmental Syndrome 1
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Accession:DOID:9005356 term browser browse the term
Definition:This disease is characterized by poor overall growth with short stature, microcephaly, hypotonia, profound global developmental delay often with poor or absent speech, and characteristic dysmorphic facial features, including hypertelorism and abnormal nose.
Synonyms:exact_synonym: TEBIVANED1;   TEVANED1
 primary_id: OMIM:619758


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    physical disorder 4917
      congenital nervous system abnormality 1487
        microcephaly 1119
          Tessadori-van Haaften Neurodevelopmental Syndrome 1 0
Path 2
Term Annotations click to browse term
  disease 17996
    Developmental Disease 17885
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17802
        genetic disease 17786
          monogenic disease 10255
            autosomal genetic disease 9441
              autosomal dominant disease 6185
                complex cortical dysplasia with other brain malformations 1582
                  Malformations of Cortical Development, Group I 1362
                    microcephaly 1119
                      Tessadori-van Haaften Neurodevelopmental Syndrome 1 0
paths to the root